Cholic acid increases plasma cholesterol in Smith-Lemli-Opitz syndrome: A pilot study

Cholic acid increases plasma cholesterol in Smith-Lemli-Opitz syndrome: A pilot study

Background: Smith-Lemli-Opitz syndrome (SLOS) is an inherited disorder of cholesterol biosynthesis associated with congenital malformations, growth delay, intellectual disability and behavior problems. SLOS is caused by bi-allelic mutations in DHCR7, which lead to reduced activity of 7-dehydrocholes...

Full description

Bibliographic Details
Main Authors: Ellen R. Elias, Lucas E. Orth, Amy Li, Libin Xu, Sara M. Jones, William B. Rizzo
Format: Article
Language:English
Published: Elsevier 2024-03-01
Series:Molecular Genetics and Metabolism Reports
Subjects:
Bile acid
Oxysterol
Intellectual disability
Malformations
DHCR7
Online Access:http://www.sciencedirect.com/science/article/pii/S2214426923000769

Internet

http://www.sciencedirect.com/science/article/pii/S2214426923000769

Similar Items